DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family - Zech, Michael; Castrop, Florian; Schormair, Barbara; Jochim, Angela; Wieland, Thomas; Gross, Nadine; Lichtner, Peter; Peters, Annette; Gieger, Christian; Meitinger, Thomas; Strom, Tim M.; Oexle, Konrad; et al. (Movement disorders, 2014)
Keywords: Adolescent; Adult; Child; Chromosomes, Human, Pair 2 - genetics; DNA Copy Number Variations - genetics; dystonia; Dystonic Disorders - genetics; DYT16; Europe; Exome - genetics; Family Health; Female; gene; Humans; Male; Middle Aged; Movement disorders; Phenotype; PRKRA; RNA-Binding Proteins - genetics; Severity of Illness Index; Young Adult; Europe; DYT16; PRKRA; gene; dystonia